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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: herberg fw. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
cAMP-dependent protein kinase defines a family of enzymes.
Taylor SS, Zheng J, Radzio-Andzelm E, Knighton DR, Ten Eyck LF, Sowadski JM, Herberg FW, Yonemoto WM. Taylor SS, et al. Among authors: herberg fw. Philos Trans R Soc Lond B Biol Sci. 1993 Jun 29;340(1293):315-24. doi: 10.1098/rstb.1993.0073. Philos Trans R Soc Lond B Biol Sci. 1993. PMID: 8103934 Review.
152 results